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Reviewed March 2007
What is the official name of the MC1R gene?
The official name of this gene is “melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor).”
MC1R is the gene's official symbol. The MC1R gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the MC1R gene?
The MC1R gene provides instructions for making a protein called the melanocortin 1 receptor. This receptor plays an important role in normal pigmentation. The receptor is primarily located on the surface of melanocytes, which are specialized cells that produce a pigment called melanin. Melanin is the substance that gives skin, hair, and eyes their color. Melanin is also found in the light-sensitive tissue at the back of the eye (the retina), where it plays a role in normal vision.
Melanocytes make two forms of melanin, eumelanin and pheomelanin. The relative amounts of these two pigments help determine the color of a person's hair and skin. People who produce mostly eumelanin tend to have brown or black hair and dark skin that tans easily. Eumelanin also protects skin from damage caused by ultraviolet (UV) radiation in sunlight. People who produce mostly pheomelanin tend to have red or blond hair, freckles, and light-colored skin that tans poorly. Because pheomelanin does not protect skin from UV radiation, people with more pheomelanin have an increased risk of skin damage caused by sun exposure.
The melanocortin 1 receptor controls which type of melanin is produced by melanocytes. When the receptor is activated, it triggers a series of chemical reactions inside melanocytes that stimulate these cells to make eumelanin. If the receptor is not activated or is blocked, melanocytes make pheomelanin instead of eumelanin.
Common variations (polymorphisms) in the MC1R gene are associated with normal differences in skin and hair color. Certain genetic variations are most common in people with red hair, fair skin, freckles, and an increased sensitivity to sun exposure. These MC1R polymorphisms reduce the ability of the melanocortin 1 receptor to stimulate eumelanin production, causing melanocytes to make mostly pheomelanin. Although MC1R is a key gene in normal human pigmentation, researchers believe that the effects of other genes also contribute to a person's hair and skin coloring.
The melanocortin 1 receptor is also active in cells other than melanocytes, including cells involved in the body's immune and inflammatory responses. The receptor's function in these cells is unknown.
Does the MC1R gene share characteristics with other genes?
The MC1R gene belongs to a family of genes called GPCR (G protein-coupled receptors).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the MC1R gene related to health conditions?
Where is the MC1R gene located?
Cytogenetic Location: 16q24.3
Molecular Location on chromosome 16: base pairs 89,984,286 to 89,987,384
The MC1R gene is located on the long (q) arm of chromosome 16 at position 24.3.
More precisely, the MC1R gene is located from base pair 89,984,286 to base pair 89,987,384 on chromosome 16.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about MC1R?
You and your healthcare professional may find the following resources about MC1R helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the MC1R gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding MC1R?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (13 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.